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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Vascular Tissue Neoplasms
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Accession:DOID:9006948 term browser browse the term
Definition:Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels.
Synonyms:exact_synonym: blood vessel neoplasm;   blood vessel tumor;   blood vessel tumors;   blood vessel tumour disorder;   haemangiomatous tumour;   neoplasm of great vessel;   vascular tissue neoplasm;   vascular tumors
 primary_id: MESH:D009383
 alt_id: RDO:0004851
For additional species annotation, visit the Alliance of Genome Resources.


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AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
Angiofibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO ClinVar Annotator: match by term: Angiofibroma, somatic ClinVar PMID:9236523 PMID:9740255 NCBI chrNW_004955422:20,356,491...20,363,374
Ensembl chrNW_004955422:20,356,491...20,363,575
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chrNW_004955413:27,463,931...27,472,273
Ensembl chrNW_004955413:27,461,998...27,472,273
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728
JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Gja4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma
CTD
ClinVar
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 PMID:24740626 PMID:25157968 PMID:25808193 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955403:31,016,423...31,130,892 JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chrNW_004955468:10,994,372...10,997,434
Ensembl chrNW_004955468:10,995,941...11,001,094
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
JBrowse link
G Arrb1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004955414:16,478,843...16,568,050
Ensembl chrNW_004955414:16,478,843...16,562,135
JBrowse link
G Arrb2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004955467:10,109,985...10,118,687
Ensembl chrNW_004955467:10,110,003...10,123,022
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chrNW_004955429:14,689,016...14,693,211
Ensembl chrNW_004955429:14,685,031...14,693,211
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chrNW_004955547:2,278,548...2,293,865
Ensembl chrNW_004955547:2,279,042...2,294,443
JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706
JBrowse link
G Map2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chrNW_004955457:5,678,826...5,816,114
Ensembl chrNW_004955457:5,678,436...5,875,024
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955442:16,047,965...16,108,862
Ensembl chrNW_004955442:16,045,895...16,108,862
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955402:15,829,895...16,049,874
Ensembl chrNW_004955402:15,831,110...16,049,890
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955456:321,222...456,431 JBrowse link
G Eng endoglin disease_progression ISO DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
RGD
ClinVar
PMID:16179574 PMID:24520391 PMID:24876084 PMID:25741868 RGD:11041171 RGD:11041564 RGD:1580962 NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chrNW_004955430:6,842,756...6,873,195
Ensembl chrNW_004955430:6,848,820...6,898,704
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO OMIM NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955470:7,334,050...7,470,751
Ensembl chrNW_004955470:7,333,351...7,470,751
JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:19546852 RGD:6480671 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955467:11,973,181...12,051,388
Ensembl chrNW_004955467:11,973,181...12,051,593
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955444:11,154,318...11,414,680
Ensembl chrNW_004955444:11,154,318...11,414,075
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955414:24,751,134...24,818,338
Ensembl chrNW_004955414:24,752,629...24,818,336
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955405:41,450,081...41,762,894
Ensembl chrNW_004955405:41,455,465...41,762,920
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004955418:29,353,276...29,403,336 JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22729224 PMID:22949682 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:28941273 PMID:31568861 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:32238909 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29891884 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29171923 PMID:29891884 PMID:30120215 RGD:734495 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chrNW_004955424:11,831,910...11,879,577
Ensembl chrNW_004955424:11,831,361...11,879,577
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO OMIM NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO OMIM NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595
JBrowse link
G Slc12a9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar PMID:28687708 NCBI chrNW_004955573:107,337...125,875
Ensembl chrNW_004955573:107,044...125,875
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chrNW_004955418:29,149,595...29,274,067
Ensembl chrNW_004955418:29,150,085...29,274,437
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Krit1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 RGD:1358458 RGD:1598379 NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1 ankyrin repeat containing ISO OMIM NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO OMIM NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004955456:7,224,224...7,230,736
Ensembl chrNW_004955456:7,224,202...7,230,660
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO OMIM NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chrNW_004955429:17,891,306...17,913,961
Ensembl chrNW_004955429:17,891,796...17,913,866
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
JBrowse link
G Nf2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891
JBrowse link
G Pdgfb platelet derived growth factor subunit B susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chrNW_004955451:15,129,619...15,147,487
Ensembl chrNW_004955451:15,129,132...15,147,488
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22958902 PMID:25741868 NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
JBrowse link
glomus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumor ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chrNW_004955412:13,768,501...13,778,944 JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO OMIM NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004955466:8,000,311...8,022,497
Ensembl chrNW_004955466:8,000,044...8,022,497
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922
JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19821096 RGD:8657063 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma
CTD
ClinVar
PMID:9286463 PMID:28492532 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10665907 RGD:12879499 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955447:15,578,661...15,588,218 JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408
JBrowse link
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc2 TSC complex subunit 2 ISO associated with tuberous sclerosis;DNA:mutations:multiple RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chrNW_004955424:15,820,734...16,034,278
Ensembl chrNW_004955424:15,824,435...16,033,946
JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056
JBrowse link
G Kdr kinase insert domain receptor ISO OMIM NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
Kaposi's sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 susceptibility ISO ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma treatment ISO RGD PMID:21665152 RGD:38599159 NCBI chrNW_004955410:11,402,476...11,433,335
Ensembl chrNW_004955410:11,402,520...11,437,422
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chrNW_004955428:17,840,554...17,894,779 JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chrNW_004955512:1,703,750...1,918,321
Ensembl chrNW_004955512:1,707,503...1,917,513
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chrNW_004955439:9,588,631...9,953,606
Ensembl chrNW_004955439:9,588,201...9,963,353
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004955538:3,421,685...3,433,829
Ensembl chrNW_004955538:3,421,685...3,433,842
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chrNW_004955450:4,907,962...4,935,179
Ensembl chrNW_004955450:4,907,788...4,936,199
JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chrNW_004955437:9,100,546...9,109,305
Ensembl chrNW_004955437:9,098,968...9,107,057
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tsc1 TSC complex subunit 1 ISO OMIM NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
JBrowse link
G Tsc2 TSC complex subunit 2 ISO OMIM NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915
JBrowse link
meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Bap1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1 like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chrNW_004955402:5,459,586...5,674,745
Ensembl chrNW_004955402:5,590,724...5,675,340
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chrNW_004955435:13,253,947...13,256,965
Ensembl chrNW_004955435:13,253,947...13,256,965
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chrNW_004955420:14,565,921...14,568,447
Ensembl chrNW_004955420:14,564,283...14,568,447
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
JBrowse link
G Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chrNW_004955429:6,999,333...7,163,988
Ensembl chrNW_004955429:6,999,333...7,163,990
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:7731706 RGD:1600423 NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645
JBrowse link
G Nf2 neurofibromin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9718334 PMID:9884492 PMID:18033041 PMID:22711605 PMID:23334667 PMID:25741868 PMID:26073919 PMID:28492532 NCBI chrNW_004955455:3,862,804...3,950,669
Ensembl chrNW_004955455:3,862,347...3,951,891
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chrNW_004955412:4,643,839...4,693,478 JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:12085208 PMID:23442912 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp STAM binding protein ISO OMIM NCBI chrNW_004955424:11,831,910...11,879,577
Ensembl chrNW_004955424:11,831,361...11,879,577
JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO OMIM NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
Non-AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Non AIDS related Kaposi sarcoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chrNW_004955416:6,897,897...7,005,602
Ensembl chrNW_004955416:6,897,848...7,009,965
JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955418:23,790,398...23,807,509
Ensembl chrNW_004955418:23,790,001...23,807,702
JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chrNW_004955457:629,599...694,948
Ensembl chrNW_004955457:629,518...696,975
JBrowse link
G Gnaq G protein subunit alpha q ISO OMIM NCBI chrNW_004955512:1,381,159...1,658,409 JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955418:23,807,740...23,897,699
Ensembl chrNW_004955418:23,807,740...23,897,707
JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO OMIM NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004955441:13,244,626...13,328,220
Ensembl chrNW_004955441:13,244,626...13,328,369
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004955403:43,821,978...43,848,403
Ensembl chrNW_004955403:43,821,296...43,848,399
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO OMIM NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster Drought syndrome ClinVar PMID:24375697 NCBI chrNW_004955404:10,213,186...10,266,581
Ensembl chrNW_004955404:10,213,186...10,266,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12519
    disease of cellular proliferation 5679
      Neoplasms by Histologic Type 3932
        Vascular Tissue Neoplasms 125
          Angiofibroma 1
          Kaposi's sarcoma + 5
          angiokeratoma + 2
          glomus tumor + 2
          hemangioma + 77
          meningioma + 23
          vascular cancer + 36
Path 2
Term Annotations click to browse term
  disease 12519
    disease of anatomical entity 0
      cardiovascular system disease 3138
        vascular disease 2250
          Vascular Tissue Neoplasms 125
            Angiofibroma 1
            Kaposi's sarcoma + 5
            angiokeratoma + 2
            glomus tumor + 2
            hemangioma + 77
            meningioma + 23
            vascular cancer + 36
paths to the root